戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 pathic exercise intolerance and a macrocytic sideroblastic anemia.
2 athy; only 12 patients (71%) manifested with sideroblastic anemia.
3  erythroid heme biosynthesis, cause X-linked sideroblastic anemia.
4 of human ALAS-E causes the disorder X-linked sideroblastic anemia.
5 ons are known to be responsible for x-linked sideroblastic anemia.
6 viously uncharacterized syndromic congenital sideroblastic anemia.
7 es insights into the pathology of congenital sideroblastic anemia.
8 c approaches for the treatment of congenital sideroblastic anemia.
9 ound medical implications, as represented by sideroblastic anemia.
10 ngenital dyserythropoiesis and some acquired sideroblastic anemias.
11 cells, with morphologic similarity to human "sideroblastic" anemia.
12 YTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegene
13                                     X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive
14  Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria.
15 e cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying a
16 tating and painful diseases such as X-linked sideroblastic anemia and X-linked protoporphyria can res
17 uding in particular Diamond-Blackfan anemia, sideroblastic anemia, and hereditary hemochromatosis.
18  mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalomyopath
19 d disorders like beta-thalassemia, inherited sideroblastic anemias, and congenital dyserythropoietic
20 LSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ata
21 deroblastic anemia, ISCU myopathy, and ABCB7 sideroblastic anemia/ataxia syndrome, affect specific ti
22 own to cause a severe congenital syndrome of sideroblastic anemia, B-cell immunodeficiency, recurrent
23                         A related congenital sideroblastic anemia (CSA) is due to mutations in SLC25A
24                               The congenital sideroblastic anemias (CSAs) are a heterogeneous group o
25                                   Congenital sideroblastic anemias (CSAs) are a heterogeneous group o
26                               The congenital sideroblastic anemias (CSAs) are relatively uncommon dis
27                               The congenital sideroblastic anemias (CSAs) can be caused by primary de
28 icated in the pathogenesis of the congenital sideroblastic anemias (CSAs).
29                                          The sideroblastic anemias display remarkable clinical and he
30 ltiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever,
31  cause of anemia in a zebrafish model and of sideroblastic anemia in a human patient.
32 ical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern pop
33 e and muscle weakness even in the absence of sideroblastic anemia irrespective of ethnicity.
34  Friedreich ataxia, glutaredoxin 5-deficient sideroblastic anemia, ISCU myopathy, and ABCB7 siderobla
35                   Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recess
36 ochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphoryla
37 n associated with mitochondrial myopathy and sideroblastic anemia (MLASA), a rare autosomal recessive
38 e a candidate gene for mouse sla (sex linked sideroblastic anemia), near the X inactivation center ge
39 to confirm previously described mutations in sideroblastic anemia or "hot spots" in the cytochrome c
40 aract, and inner retinal dysfunction without sideroblastic anemia or developmental delay.
41  patient with pyridoxine-refractory X-linked sideroblastic anemia, our findings suggest that appropri
42                                          The sideroblastic anemias (SAs) are a group of inherited and
43  another of her children, an infant son, had sideroblastic anemia, was diagnosed with PS, and died at
44 eful in treatment of human disorders such as sideroblastic anemia, which SOD2 deficiency most closely
45 ondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defec
46                                     X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare synd
47 nsporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functio
48  cataract, Friedreich's ataxia, and X-linked sideroblastic anemia with ataxia).
49 n members of a family affected with X-linked sideroblastic anemia with cerebellar ataxia (XLSA/A).
50 tended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 a
51                                     X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria
52 ic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial en
53                                     X-linked sideroblastic anemia (XLSA) in female carriers of 5-amin
54                                     X-linked sideroblastic anemia (XLSA) in four unrelated male proba
55                                     X-linked sideroblastic anemia (XLSA) is a congenital anemia cause
56                                     X-linked sideroblastic anemia (XLSA) is caused by mutations in th
57 e 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly suggesti